A strong girl despite a weak heart

Quick update from my phone as we head out of town for the holiday. Wishing I could say she has a perfect heart but that's not the case. It's pretty hard to sum up a 3 hour appointment in a few sentences but here goes. Charlotte has an AV canal defect and possibly total anomalous pulmonary venous connection. Basically a big hole in the center of her heart and the veins leading back to the heart from the lungs aren't connected to the left atrium like they should be. In an ideal situation, she will have surgery at 4 months to fix the defects. However a number of complications could cause too much stress on her heart prior to Jan or when she is born and she would not survive. There is also a possibility that the complications we learned about will cause her heart to take priority and the surgeons would have to figure out how to perform the surgery before the opening in her back is closed. Clearly an issue since heart surgery requires her to lay on her back. I am trying my best to plan ahead and gain knowledge but take one day at a time. Much easier said than done. Definitely not the outcome I was praying for but I can't let something in the past cause me to stumble. A very long road is ahead. Thanks for all the prayers. He is certainly the reason I am not curled up in the fetal position...at least for now ;)

Rockstar Pediatrician

Dr. Aimee is exactly what we needed.  An advocate, who is kind, thoughtful, very smart and on top of things and who is willing to help even though Charlotte won't technically be her patient for months.    After I left her a message she called me from home on Tuesday and took over.  She consulted with the maternal fetal medicine Dr. and got all the information.  Turns out there is some debate on whether Charlotte truly has a heart defect and that is why they want us to see a cardiologist first.  If it turns out her heart is fine, they want to try and get us into a program that would do the in utero surgery.  Just the thought of this surgery sends me over the edge and into heart palpitations so I am not letting my mind go there yet.

Dr. Aimee called the cardiologist at Cook's but they didn't have appointments until October.  Evidently she didn't let that stop her and after two days of begging and pleading they found an appointment for us tomorrow!

To sum it up it looks like we are going to deliver at Cook Children's Hospital in Fort Worth.  We have an appointment with a pediatric cardiologist there and I am still working on getting set up with a new OB.

This week has been amazing and completely overwhelming.  Charlotte's big brother started kindergarten which is a Spanish immersion program so every other day he has no idea what his teacher is saying!  Her sister met her new preschool teacher and will start there next week. And to top it off the downstairs AC broke.  Lucky for me both the kids seem to love school and are adjusting well.  Plus, Jared is incredibly handy and with the help of google replaced the blower saving us more than I care to think about.

There have been multiple times I feel like I am making a mistake or choosing the wrong path and I start to panic. But I am going to try and remember this piece of advice from my amazing sister-in-law, Holly.  She said, "You just jump in with both feet and pray for strength to overcome what comes your way!"

I once heard my friend Rebecca pray, "God I am asking for the big one, the miracle that only you can deliver." So my prayer today is God let Charlotte's heart be healthy.  If his will supersedes mine then so be it, but I won't be afraid to ask :)

Matthew 18:19-20

¹⁹ “Again, truly I tell you that if two of you on earth agree about anything they ask for, it will be done for them by my Father in heaven. ²⁰ For where two or three gather in my name, there am I with them.”

Microarray Results

The microarray came back normal.  What does this mean?  Um, well, you see...I'm not really sure!  The Dr.'s statement was that as far as our current technology goes  (which is pretty great, by the way) Charlotte is a chromosomally normal child.  That is good I guess.  It does leave us with the question of how could so much have gone wrong?  And as her mother I think, what the heck did I eat, drink or do that would cause this.  But, in the end there are never answers to the why's and that leads us back to trusting in God.

The next step is to decide where we will deliver.  There are 3 hospitals in the DFW area that can do the surgery for Spina Bifida.  Our current pediatrician, who we LOVE, is a part of Cook's Children so we are leaning towards that hospital.  Several people have mentioned the in utero procedure for SB.  It started as a trial at CHOP (Children's Hospital of Philadelphia) and is now out of trial and at several hospitals in other states.  There is some conflicting data on the risks and benefits and on top of that several doctors have told us that Charlotte is not a good candidate for this surgery.  After some prayer, I agree.  I wish I could fix her now but I believe her heart needs more time to develop and possibly correct itself so she will be strong enough to endure the SB surgery.

Next we will see the pediatric cardiologist for our hospital to confirm the heart defect and find out more details.  Then we will meet with the neurological team that will perform the SB surgery.  We know that the opening is in the lumbar sacral region but they will provide more specifics.  FYI The lower on the spine the less neurological damage.  Plus, I will need a new OB because mine delivers only at Lewisville and Flower Mound.

Whew! We ask that you pray that we are led to the right doctors and hospital for Charlotte and for continued strength and endurance as new struggles arise.  And on a side note pray for one of our doctors and her family as her father passed away last week.

Blessings

Sunday at church was the blessing of the backpacks.  Now coming from the Baptist church this was a little odd to me but turns out it was a chance to pray over the students, teachers, administrators and parents before the school year and that is just fine by me.  Afterwards, our pastor spoke about blessings.  Let me be very honest.  I have always been a bit confused on this topic.  There are many that simply replace thankful with blessed or say "I'm so blessed because..." insert bragging moment here and then of course there are the official blessings used in church.  And don't forget the southern woman who uses "Bless your/her heart!"  Don't get me started on what I believe many women actually mean when they use this phrase ;)  And last but most on my mind is when you are in a situation that seems very dim and someone says in time this will be a wonderful blessing.  

How about this one?  A blessing is when Heaven reaches down to touch the earth and in those small moments we see His hand.  Not our hand but His.  Nice work Pastor John.  I finally got it!

Obviously we see His hand in EVERY child that is born.  Truly one of the biggest blessings.  But, lately I have seen His hand in small circumstances each day.  A text or call from friend, a dinner delivered, our church staff, a generous offer for help, a beautiful bouquet of flowers and so much more.  Just about the time I think I can't move forward any longer...BAM!...a blessing, His hand, Heaven reaching down to earth.  So thank you to everyone who is loving and praying and helping us.  And thank you to those who we haven't seen in years or saw yesterday who took the time to comment on our "big" news. He is clearly using you to bless. 

Much love,

Becky

The Good and the Bad

Today the doctor told us he sees Charlotte's defects everyday just never in one baby.  It is very unique to have so many different issues but no major chromosomal problems. He confirmed that Charlotte has Spina Bifida.  The sonogram also showed she has one cystic nonfunctioning kidney but the other one seems to be doing well.  This was clear by a full bladder and plenty of amniotic fluid.  Her heart does have a hole but we will learn more about this from a pediatric cardiologist in the future.  He said her foot may or may not be clubbed and the cyst is still large and present.

So because it's unlikely we will have an overall syndrome or disease that will provide a prognosis I asked the Dr. to talk about each issue as if it was the only one.  He said heart defects are able to be corrected.  Sometimes they get better through pregnancy, some have surgery immediately, some years later and still some never require surgery.  So it's a wait and see.

The kidneys are what they are for now.  He said you really only need 10% of one kidney in order to live.  Who knew?!

A club foot (if she has it) is correctable.  Did you know that "NFL Cornerback Charles Woodson was born with severely clubbed feet and went on to win the Heisman Award at the University of Michigan, played in Super Bowl XXXVII with the Oakland Raiders and wonSuper Bowl XLV with the Green Bay Packers. The figure-skater Kristi Yamaguchi was born with a clubfoot, and went on to win gold medals at both the 1992 Winter Olympics and World Championships. The soccer star Mia Hamm was born with the condition and won Gold twice with team USA in the 1996 Olympics and in the 2004 Olympics."  I stole that from Wikipedia :)

The cysts are just a marker for chromosomal disorders and will likely disappear and even if they don't they won't cause issues.

And the big one.  Spina Bifida.  It is a neural tube defect and means that a portion of her lower spine didn't close and is now exposed to the amniotic fluid.  She will have surgery immediately following her birth to close the opening.  The spectrum of SB is huge.  Some people walk, others require braces and or crutches and still others are wheelchair bound.  Many times they struggle with incontinence but over time most can gain control. SB kiddos also retain fluid in their brain and often require surgery to place a shunt that drains the fluid.  95% of SB kids have average to above average IQs.  

So that's my best summary.  Another thing to point out is that because she is one of a kind it is likely that there are other issues that may not show up until later or after she is born.  We really don't have good answers and that alone is frustrating and difficult.

We have gone from grieving the loss of our daughter to struggling to imagine ourselves with a very special needs child.  Lots of tears, anger, frustration, stress, grief...basically if it's an emotion we have had it.  And Jared and I are often on opposite sides of the spectrum ;)

So that's where we are.  I hope I left you with more answers than questions but considering the situation I know it's likely the questions are more abundant!!  Our next step is waiting for the results from the microarray.

Still no answers but we have a name!

Previous email from me:

I thought I would send an update on our sweet baby girl.  In case you haven't heard we named her Charlotte (small strong woman) Grace (having God's favor; a gift)  Forgive me if I repeat information you already know.  

On August 3rd we had an amnio after a poor sonogram on the 2nd.  The next Monday the FISH (quick results) showed normal chromosomes for 13, 18, 21 and the sex chromosomes.  The Dr. has told us to expect these results to come back clear.  On Aug 14th when we were in Destin the Dr. called and said that the final amnio results were in and the chromosomes were normal but there were elevated levels of alpha fetoprotein and acetylcholinesterase was present.  These two findings point towards spina bifida.  But because not all the sonogram findings (kidney and heart issues) are indicative of SB she suggested doing a microarray.  This is a test they will perform on the amnio fluid they have already collected.  It will look at each chromosome in high level detail to see if there is a deletion, translocation etc. and will take two more weeks so maybe by the end of this week or next week we will have the results.

Today at 2:45 we have an appointment with another maternal fetal medicine specialist for a detailed sonogram.  He will look for the SB defect and check all the other issues.  Now that we are 19 weeks they should be able to see more than our sonogram almost 3 weeks ago.  

So probably more details than you wanted but it is how I process so thanks for letting me share.  Please know that we love Charlotte sick or not with all our hearts.  And we will do anything we can to gain all the information we can to find the right doctors to help her if that is at all possible.  But if God choses to take her home we will always remember and love her as our precious daughter.  

So pray specifically for some answers and that if they don't come we will find peace in that situation as well.  

Thanks again for letting me share and for being so supportive.

Negative Test! But...

Another prior email from Jared:

After a terrifying week and lots of prayer, the test came back negative for Trisomy 13, 18 and 21 and we were elated.

  

This would be short lived however.

After returning to the specialist today for a follow up (16 weeks) and another sonogram, we have very sad news to report.  The baby shows abnormal brain development with cysts, little to no kidney function, a hole in the heart, and some other complications. 

Becky will be having an amniocentesis tomorrow morning to conduct further testing to try and establish a final prognosis which can take up to two weeks, but most likely the findings will remain the same, incompatible with life.  Needless to say we are completely devastated (again) and going through a lot of emotions right now. I will be taking some time off of work to care for Becky and the kids.   We will have some difficult times ahead of us as we wait for more information.  Prayers are certainly appreciated.